Roberta Ricotti
17 Papers
16 Citations
Roberta Ricotti is an academic researcher. The author has contributed to research in topics: Medicine & Internal medicine. The author has an hindex of 9, co-authored 10 publications.
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Papers
Frequent low penetrance mutations in the Lamin A/C gene, causing Emery Dreifuss muscular dystrophy.
Michal Vytopil,Enzo Ricci,Antonio Dello Russo,Frank Hanisch,Stephan Neudecker,Stephan Zierz,Roberta Ricotti,L. Demay,Pascale Richard,Manfred Wehnert,Gisèle Bonne,Luciano Merlini,Daniela Toniolo +12 more
TL;DR: It is suggested that incomplete penetrance of dominant mutations in the LMNA gene is a common feature and the significance of mutational analysis in relatives of sporadic cases of laminopathies is emphasized, as asymptomatic carriers face high risk of sudden cardiac death.
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GTF2E2 Mutations Destabilize the General Transcription Factor Complex TFIIE in Individuals with DNA Repair-Proficient Trichothiodystrophy
Christiane Kuschal,Elena Botta,Donata Orioli,John J. DiGiovanna,Sara Seneca,Kathelijn Keymolen,Deborah Tamura,E. Heller,Sikandar G. Khan,Giuseppina Caligiuri,Manuela Lanzafame,Tiziana Nardo,Roberta Ricotti,Fiorenzo A. Peverali,Robert M. Stephens,Yongmei Zhao,Alan R. Lehmann,Laura Baranello,David Levens,Kenneth H. Kraemer,Miria Stefanini +20 more
TL;DR: Two unrelated children showing clinical features typical of TTD who harbor different homozygous missense mutations in GTF2E2 are reported, supporting the theory that TTD is caused by transcriptional impairments that are distinct from the NER disorder XP.
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A mutation in the X-linked Emery–Dreifuss muscular dystrophy gene in a patient affected with conduction cardiomyopathy
S. Vohanka,Michal Vytopil,Josef Bednarik,Zdenek Lukas,Zdenek Kadanka,Jiri Schildberger,Roberta Ricotti,Silvia Bione,Daniela Toniolo +8 more
TL;DR: A patient with a severe cardiac disease but a very mild muscle disorder that had not been diagnosed until the mutations was found shows that mutations in X-EMD gene, as it was shown for autosomal-dominant EMD, can cause a predominant cardiac phenotype.
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Mutations in the C7orf11 (TTDN1) gene in six nonphotosensitive trichothiodystrophy patients: no obvious genotype–phenotype relationships†
Elena Botta,Judith Offman,Tiziana Nardo,Roberta Ricotti,Giovanna Zambruno,Daniela Sansone,Paolo Balestri,Anja Raams,Wim J. Kleijer,Nicolaas G. J. Jaspers,Alain Sarasin,Alan R. Lehmann,Miria Stefanini +12 more
TL;DR: Since only a small proportion of the analyzed cases were mutated in TTDN1, the nonphotosensitive form of TTD is genetically heterogeneous, suggesting that T TDN1 is not essential for cell proliferation and viability.
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Genotype-phenotype relationships in trichothiodystrophy patients with novel splicing mutations in the XPD gene
Elena Botta,Tiziana Nardo,Donata Orioli,Roberta Guglielmino,Roberta Ricotti,Sergio Bondanza,Francesco Benedicenti,Giovanna Zambruno,Miria Stefanini +8 more
TL;DR: Compared to the previously described TTD compound heterozygotes for the Arg722Trp change, Patient TTD24PV's cells show similar level of TFIIH but increased repair activity, suggesting that even low amounts of normal XPD subunits are able to partially rescue the functionality ofTFIIH complexes.
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